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TTTGACCCCCTCTTCAATGCTATCA[C/T]TGGCTTAAATGGTAGTGGGAAATCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605576 | ||||||||||||||||||||
Literature Links: |
SMC2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SMC2 - structural maintenance of chromosomes 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042550.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | NP_001036015.1 | |
NM_001042551.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | NP_001036016.1 | |
NM_001265602.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | NP_001252531.1 | |
NM_006444.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | NP_006435.2 | |
XM_006716933.3 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_006716996.1 | |
XM_011518148.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516450.1 | |
XM_011518149.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516451.1 | |
XM_011518150.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516452.1 | |
XM_011518151.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516453.1 | |
XM_011518152.2 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516454.1 | |
XM_011518153.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_011516455.1 | |
XM_017014206.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869695.1 | |
XM_017014207.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869696.1 | |
XM_017014208.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869697.1 | |
XM_017014209.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869698.1 | |
XM_017014210.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869699.1 | |
XM_017014211.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869700.1 | |
XM_017014212.1 | 322 | Missense Mutation | ACT,ATT | T,I 31 | XP_016869701.1 |
SMC2-AS1 - SMC2 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |